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rs397507327

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs397507327(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338598
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397507327
dbSNP (classic)rs397507327
ClinGenrs397507327
ebirs397507327
HLIrs397507327
Exacrs397507327
Gnomadrs397507327
Varsomers397507327
LitVarrs397507327
Maprs397507327
PheGenIrs397507327
Biobankrs397507327
1000 genomesrs397507327
hgdprs397507327
ensemblrs397507327
geneviewrs397507327
scholarrs397507327
googlers397507327
pharmgkbrs397507327
gwascentralrs397507327
openSNPrs397507327
23andMers397507327
SNPshotrs397507327
SNPdbers397507327
MSV3drs397507327
GWAS Ctlgrs397507327
Max Magnitude6

aka c.4243G>T (p.Glu1415Ter and E1415X); but note also presence of c.4243G>A (p.Glu1415Lys and E1415K)


ClinVar
Risk rs397507327(A;A) rs397507327(T;T)
Alt rs397507327(A;A) rs397507327(T;T)
Reference Rs397507327(G;G)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast not provided
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Familial cancer of breast not provided
Reversed 0
HGVS NC_000013.10:g.32912735G>T
CLNSRC ClinVar
CLNACC RCV000031471.5, RCV000044376.2, RCV000219707.1,